ClinVar Miner

List of variants reported as uncertain significance for Carney-Stratakis syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.455C>T (p.Ser152Phe) rs200414835 0.00011
NM_003001.5(SDHC):c.98C>T (p.Thr33Met) rs148566767 0.00007
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys) rs202119350 0.00006
NM_003000.3(SDHB):c.317A>G (p.Asn106Ser) rs934514080 0.00006
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser) rs186768244 0.00005
NM_003000.3(SDHB):c.307A>G (p.Met103Val) rs140178341 0.00004
NM_003000.3(SDHB):c.544G>A (p.Gly182Arg) rs201928318 0.00003
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro) rs774299337 0.00002
NM_003000.3(SDHB):c.343C>G (p.Arg115Gly) rs751000085 0.00001
NM_003000.3(SDHB):c.400T>C (p.Tyr134His) rs771004483 0.00001
NM_003000.3(SDHB):c.553G>A (p.Glu185Lys) rs1045881797 0.00001
NM_003000.3(SDHB):c.719T>C (p.Leu240Pro) rs1131691046 0.00001
NM_003001.5(SDHC):c.128A>G (p.Asn43Ser) rs747349777 0.00001
NM_003001.5(SDHC):c.25G>A (p.Val9Ile) rs774768866 0.00001
NM_003001.5(SDHC):c.263C>T (p.Ser88Leu) rs778212096 0.00001
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr) rs541660851 0.00001
NM_003001.5(SDHC):c.54T>G (p.Phe18Leu) rs200761743 0.00001
NM_003001.5(SDHC):c.82G>T (p.Val28Phe) rs754818119 0.00001
NM_003002.4(SDHD):c.148C>T (p.His50Tyr) rs779249550 0.00001
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) rs199869408 0.00001
NM_003002.4(SDHD):c.356C>T (p.Ala119Val) rs758784300 0.00001
NM_003002.4(SDHD):c.421T>C (p.Tyr141His) rs1394514096 0.00001
NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys) rs745732631 0.00001
NM_003002.4(SDHD):c.85G>C (p.Ala29Pro) rs776930864 0.00001
NM_003000.3(SDHB):c.193C>T (p.Leu65Phe) rs786202185
NM_003000.3(SDHB):c.379A>C (p.Ile127Leu) rs201372280
NM_003000.3(SDHB):c.385C>T (p.Pro129Ser) rs1553177740
NM_003000.3(SDHB):c.395A>G (p.His132Arg) rs74315372
NM_003000.3(SDHB):c.46A>G (p.Thr16Ala) rs1433760506
NM_003001.5(SDHC):c.422A>G (p.Lys141Arg) rs1558185879
NM_003001.5(SDHC):c.4G>C (p.Ala2Pro) rs1198315342
NM_003001.5(SDHC):c.7G>T (p.Ala3Ser) rs748243732
NM_003002.4(SDHD):c.175T>C (p.Ser59Pro) rs1592780294
NM_003002.4(SDHD):c.315-7_315-5delinsAAA rs1060503775
NM_003002.4(SDHD):c.319C>T (p.Leu107Phe) rs1209781530

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